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We describe a case of disseminated Beauveria bassiana infection in a patient with acute lymphoblastic leukemia. Her infection was successfully treated with amphotericin B and itraconazole. B. bassiana is rarely reported as a human pathogen. It is commonly found in soil and because of its pathogenicity to many insect species is incorporated into several pesticides.

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AIMS: To determine iron status in a longitudinal study of New Zealanders, the Dunedin Multidisciplinary Health and Development Study (DMHDS), at ages 11 (1983-4) and 21 (1993-4). METHODS: Red cell variables were measured in 553 (298 males, 255 females) and 784 (413 males, 371 females) members of the DMHDS at ages 11 and 21, respectively. A total of 456 (259 males, 197 females) members were tested at both ages. Serum ferritin was measured at age 21 only. RESULTS: The prevalence of anaemia in females (haemoglobin < 120 g/L) increased from 3.1% at age 11 to 5.8% at age 21 (pregnant women excluded). There was a significant association between low haemoglobin at age 11 and low haemoglobin at age 21. In males, prevalence of anaemia decreased from 2.3% at age 11 to 0.97% (haemoglobin < 130 g/L) at age 21. The prevalence of iron deficiency (ferritin < 12 ng/mL) at age 21 was 0.24% in men and 6.7% in women. The prevalence of iron deficiency with anaemia at age 21 was zero in men and 2.2% in women. CONCLUSIONS: The prevalences of anaemia and iron deficiency in the DMHDS appear to be low by comparison with similar populations in other countries. Anaemia appears to be a stable trait in young women and screening may be useful for its early detection.

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We describe a 22-year-old Pakistani male with polycythaemia associated with homozygosity for a high-affinity haemoglobin mutant, Hb Sherwood Forest. This haemoglobin variant has an amino acid substitution in the beta globin chain at position 104, Arg-->Thr. In the two previously reported instances of this haemoglobin mutant the individuals were heterozygotes and were haematologically normal. We show here that the homozygous state for the mutation is associated with a compensatory erythrocytosis resulting from decreased delivery of oxygen to the tissues. A family study showed that both parents and two siblings are heterozygotes for the haemoglobin mutant and are haematologically normal. To our knowledge, this represents the first example of a beta-globin mutation producing polycythaemia in homozygotes but not in heterozygotes.

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Familial deficiency of antithrombin causes venous thromboembolism which may not become clinically apparent until the third or fourth decade of life. In affected families conventional tests of antithrombin activity and antithrombin antigen levels may not be sufficiently accurate to discriminate with certainty between those young people who have inherited the abnormal gene and those who have not. Molecular probes for polymorphisms linked to the gene of interest may be informative but in some families are not. We have used the knowledge of the precise molecular defect in antithrombin Glasgow to design and manufacture DNA probes and have used these probes to detect the presence of the abnormal gene in DNA from clinically unaffected family members and thus confirm their inheritance of antithrombin deficiency and their predisposition to venous thromboembolic disease.

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We describe the use of techniques of DNA analysis for the diagnosis of certain inherited diseases during life and in the prenatal period, and for the diagnosis of some infectious diseases. Most local and some national needs for predictive genetic testing have been met. The costs of establishing our service are presented and are compared with those of similar services recently established in the United Kingdom. In the 12 month period described, running costs were approximately $57,000 and salaries for the two scientific officers and the medical technologist required to run the service were $97,000. The prerequisites for the successful running of such a service are discussed.

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A moderate reduction of plasma antithrombin activity is an uncommon but clinically important cause of severe thromboembolic disease. In recent years the molecule responsible for the major part of this activity (antithrombin III) has been extensively characterised and the mode of inheritance of familial deficiencies worked out. Over 30 autosomally dominant inheritable variants have been described, the gene for normal human antithrombin III has been sequenced and this information has provided important insights into the reaction of antithrombin with thrombin and the catalytic role of heparin. Further information has been derived by analogy with other serine proteinase inhibitors, in particular alpha 1 antitrypsin. Recombinant DNA methods have been used to produce functionally active AT III which may, in the future, replace human chromatographically-separated AT III as the treatment of choice for clinically important deficiency states. Newer diagnostic techniques, using restriction fragment length polymorphisms and synthetic oligonucleotide probes, hold the promise of more accurate diagnosis and diagnosis in the antenatal period in families possessing some of the fully characterised variants.

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Antithrombin Glasgow is a hereditary abnormal antithrombin that has lost thrombin inhibitory activity. It was isolated from the plasma of a 41-year-old male with a history of thrombotic events. Antithrombin Glasgow was purified from plasma using heparin-Sepharose chromatography at pH 7.4 eluting with increasing concentrations of NaCl. The normal protein eluted with 0.9 mol/l NaCl and Glasgow with 1.05 mol/l NaCl. Electrophoresis in agarose at pH 8.6 showed the variant to migrate more anodally than normal. The C-terminal small fragment resulting from catalytic cleavage with elastase between P3 and P4 of the reactive loop was isolated and sequenced. This showed the replacement of the arginine at residue 3 by a histidine. This is residue 393 in the intact molecule. The findings suggest that heparin, on binding, interacts indirectly with the reactive centre region of antithrombin.

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The incidence of cytomegalovirus antibody positivity has been determined in populations of blood donors in centres in the North and South Islands of New Zealand. No difference in incidence was found. Rates of antibody detection increased from approximately 30% in younger donors to approximately 65% in donors between the ages of 56 and 65 years. No sex difference in incidence was observed. The implications for policies governing the supply of cytomegalovirus antibody-free blood for transfusion are discussed.

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A temporal cluster of four cases of transient childhood erythroblastopenia is described. In all cases there was an associated transient neutropenia and in one case a transient mild thrombocytopenia. In all cases reticulo-endothelial iron overload was a prominent feature but there was no evidence of a pre-existing chronic haemolytic state. All children made a full recovery with only supportive treatment, although in three cases blood transfusion was necessary.

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A temporal cluster of three cases of haemolytic uraemic syndrome is described. Prognostic factors are reviewed and the sometimes unpredictable outcome of this rare condition is emphasised.

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